PEBAT
MCID: ENC047
MIFTS: 29

Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum (PEBAT)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

MalaCards integrated aliases for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum:

Name: Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 56 73 29 6 39
Pebat 56 73 36
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth or in the first months of life


HPO:

31
encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

OMIM : 56 PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016). (617193)

MalaCards based summary : Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum, is also known as pebat. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum is TBCD (Tubulin Folding Cofactor D). Affiliated tissues include brain, eye and bone, and related phenotypes are muscle weakness and skeletal muscle atrophy

KEGG : 36 Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT) is an autosomal recessive neurodevelopmental and neurodegenerative disorder. Clinical features include developmental delay and profound intellectual disability, seizures, progressive spasticity, and early-onset cortical atrophy. Mutations in TBCD cause PEBAT. TBCD encodes one of the five co-chaperones playing a pivotal role in microtubule assembly.

UniProtKB/Swiss-Prot : 73 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum: An autosomal recessive disease with neurodevelopmental and neurodegenerative features. PEBAT is characterized by early-onset cortical atrophy, hypomyelination, microcephaly, thin corpus callosum, delayed psychomotor development, developmental regression, intellectual disability, seizures, optic atrophy, muscle weakness and atrophy, spastic quadriplegia, and respiratory insufficiency due to hypotonia.

Related Diseases for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Symptoms & Phenotypes for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Human phenotypes related to Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum:

58 31 (showing 74, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
3 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
4 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
5 hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002079
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
8 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
9 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
10 progressive spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002191
11 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
12 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
13 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
14 postnatal microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0005484
15 tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002445
16 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
17 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
18 cerebral hypomyelination 58 31 frequent (33%) Frequent (79-30%) HP:0006808
19 absent smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0007179
20 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
21 generalized tonic seizure 31 frequent (33%) HP:0010818
22 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
23 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
24 widely spaced teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000687
25 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
26 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
27 elevated serum creatine kinase 58 31 occasional (7.5%) Occasional (29-5%) HP:0003236
28 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
29 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
30 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
31 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
32 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
33 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
34 fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002380
35 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
36 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
37 respiratory failure requiring assisted ventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004887
38 sparse eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0045075
39 fractures of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0003084
40 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
41 chronic constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0012450
42 congenital microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0011451
43 macrotia 58 31 very rare (1%) Very rare (<4-1%) HP:0000400
44 pectus carinatum 58 31 very rare (1%) Very rare (<4-1%) HP:0000768
45 stereotypy 58 31 very rare (1%) Very rare (<4-1%) HP:0000733
46 bowel incontinence 58 31 very rare (1%) Very rare (<4-1%) HP:0002607
47 pectus excavatum 58 31 very rare (1%) Very rare (<4-1%) HP:0000767
48 congenital hip dislocation 58 31 very rare (1%) Very rare (<4-1%) HP:0001374
49 dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001332
50 recurrent pneumonia 58 31 very rare (1%) Very rare (<4-1%) HP:0006532
51 hirsutism 58 31 very rare (1%) Very rare (<4-1%) HP:0001007
52 cataplexy 58 31 very rare (1%) Very rare (<4-1%) HP:0002524
53 motor axonal neuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0007002
54 neurogenic bladder 58 31 very rare (1%) Very rare (<4-1%) HP:0000011
55 febrile seizure (within the age range of 3 months to 6 years) 31 very rare (1%) HP:0002373
56 intellectual disability 31 HP:0001249
57 spasticity 58 Very frequent (99-80%)
58 spastic tetraplegia 31 HP:0002510
59 respiratory insufficiency 31 HP:0002093
60 constipation 31 HP:0002019
61 ventriculomegaly 31 HP:0002119
62 severe muscular hypotonia 31 HP:0006829
63 encephalopathy 31 HP:0001298
64 generalized tonic-clonic seizures 58 Frequent (79-30%)
65 atrophy/degeneration affecting the brainstem 31 HP:0007366
66 facial hypotonia 31 HP:0000297
67 neuronal loss in central nervous system 31 HP:0002529
68 cns hypomyelination 31 HP:0003429
69 febrile seizures 58 Very rare (<4-1%)
70 diffuse cerebral atrophy 31 HP:0002506
71 generalized tonic seizures 58 Frequent (79-30%)
72 gliosis 31 HP:0002171
73 tongue fasciculations 31 HP:0001308
74 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
seizures
developmental regression
spastic tetraplegia
cerebellar atrophy
more
Skeletal Spine:
scoliosis

Muscle Soft Tissue:
muscle weakness
muscle atrophy
myopathic changes seen on muscle biopsy
hypotonia, severe

Abdomen Gastrointestinal:
constipation
poor feeding

Head And Neck Head:
microcephaly, postnatal

Growth Other:
poor overall growth

Respiratory:
respiratory insufficiency due to hypotonia

Head And Neck Eyes:
hypertelorism
optic atrophy
upslanting palpebral fissures
sparse eyebrows
lack of visual attention

Head And Neck Teeth:
widely spaced teeth

Head And Neck Face:
micrognathia
facial hypotonia

Head And Neck Mouth:
tongue fasciculations

Skeletal:
arthrogryposis

Genitourinary Bladder:
urinary incontinence (in some patients)

Clinical features from OMIM:

617193

Drugs & Therapeutics for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum

Genetic Tests for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Genetic tests related to Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum:

# Genetic test Affiliating Genes
1 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 29 TBCD

Anatomical Context for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

MalaCards organs/tissues related to Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum:

40
Brain, Eye, Bone, Skeletal Muscle, Tongue

Publications for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Articles related to Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum:

(showing 2, show less)
# Title Authors PMID Year
1
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. 56 6
27666370 2016
2
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. 6 56
27666374 2016

Variations for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

ClinVar genetic disease variations for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum:

6 (showing 27, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBCD NM_005993.5(TBCD):c.1564-12C>GSNV Pathogenic 268166 rs886041084 17:80851411-80851411 17:82893535-82893535
2 TBCD NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)SNV Pathogenic 268167 rs181969865 17:80882868-80882868 17:82924992-82924992
3 TBCD NM_005993.5(TBCD):c.2761G>A (p.Ala921Thr)SNV Pathogenic 268168 rs886041085 17:80887056-80887056 17:82929180-82929180
4 TBCD NM_005993.5(TBCD):c.1160T>G (p.Met387Arg)SNV Pathogenic 268169 rs886041086 17:80767595-80767595 17:82809719-82809719
5 TBCD NM_005993.5(TBCD):c.2280C>A (p.Tyr760Ter)SNV Pathogenic 268170 rs754750539 17:80882834-80882834 17:82924958-82924958
6 TBCD NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu)SNV Pathogenic 268171 rs755177846 17:80896008-80896008 17:82938132-82938132
7 TBCD NM_005993.5(TBCD):c.2810C>G (p.Pro937Arg)SNV Pathogenic 268172 rs886041087 17:80887105-80887105 17:82929229-82929229
8 TBCD NM_005993.5(TBCD):c.686T>G (p.Leu229Arg)SNV Pathogenic 268173 rs778417127 17:80739512-80739512 17:82781636-82781636
9 TBCD NM_005993.5(TBCD):c.1876G>A (p.Ala626Thr)SNV Pathogenic 268174 rs749225304 17:80863883-80863883 17:82906007-82906007
10 TBCD NM_005993.5(TBCD):c.1130G>A (p.Arg377Gln)SNV Pathogenic 268175 rs764085684 17:80765526-80765526 17:82807650-82807650
11 TBCD NM_005993.5(TBCD):c.967C>T (p.Arg323Ter)SNV Pathogenic/Likely pathogenic 692021 17:80763767-80763767 17:82805891-82805891
12 TBCD NM_005993.5(TBCD):c.1340C>T (p.Ala447Val)SNV Likely pathogenic 692020 17:80828121-80828121 17:82870245-82870245
13 TBCD NM_005993.5(TBCD):c.1661C>T (p.Ala554Val)SNV Likely pathogenic 452575 rs1555641324 17:80858538-80858538 17:82900662-82900662
14 TBCD NM_005993.5(TBCD):c.1504C>G (p.Arg502Gly)SNV Likely pathogenic 807699 17:80842049-80842049 17:82884173-82884173
15 TBCD NM_005993.5(TBCD):c.2380-1G>ASNV Likely pathogenic 807700 17:80884275-80884275 17:82926399-82926399
16 TBCD NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu)SNV Likely pathogenic 807701 17:80890545-80890545 17:82932669-82932669
17 TBCD NM_005993.5(TBCD):c.230A>G (p.His77Arg)SNV Likely pathogenic 624104 rs1409600874 17:80714086-80714086 17:82756210-82756210
18 TBCD NM_005993.5(TBCD):c.2327C>T (p.Ser776Leu)SNV Conflicting interpretations of pathogenicity 740006 17:80882881-80882881 17:82925005-82925005
19 TBCD NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg)SNV Uncertain significance 801003 17:80858589-80858589 17:82900713-82900713
20 TBCD NM_005993.5(TBCD):c.1537G>A (p.Ala513Thr)SNV Uncertain significance 587585 rs1567966866 17:80847547-80847547 17:82889671-82889671
21 TBCD NM_005993.5(TBCD):c.2137C>G (p.His713Asp)SNV Uncertain significance 587404 rs200903034 17:80879412-80879412 17:82921536-82921536
22 TBCD NM_005993.5(TBCD):c.3126G>A (p.Pro1042=)SNV Uncertain significance 587405 rs369672739 17:80890546-80890546 17:82932670-82932670
23 TBCD NM_005993.5(TBCD):c.1087+5G>ASNV Uncertain significance 635066 rs374775577 17:80763892-80763892 17:82806016-82806016
24 TBCD NM_005993.5(TBCD):c.2209T>C (p.Cys737Arg)SNV Uncertain significance 635067 rs1568053442 17:80881558-80881558 17:82923682-82923682
25 TBCD NM_005993.5(TBCD):c.880C>T (p.Arg294Trp)SNV Uncertain significance 423874 rs1064796675 17:80758802-80758802 17:82800926-82800926
26 TBCD NM_005993.5(TBCD):c.1399G>A (p.Ala467Thr)SNV Uncertain significance 870413 17:80828180-80828180 17:82870304-82870304
27 TBCD NM_005993.5(TBCD):c.3194A>G (p.His1065Arg)SNV Uncertain significance 870414 17:80895149-80895149 17:82937273-82937273

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum:

73 (showing 11, show less)
# Symbol AA change Variation ID SNP ID
1 TBCD p.Leu229Arg VAR_077968 rs778417127
2 TBCD p.Thr374Met VAR_077969 rs953299085
3 TBCD p.Arg377Gln VAR_077970 rs764085684
4 TBCD p.Met387Arg VAR_077971 rs886041086
5 TBCD p.Ala475Thr VAR_077972 rs775014444
6 TBCD p.Ala586Val VAR_077973
7 TBCD p.Ala626Thr VAR_077974 rs749225304
8 TBCD p.Arg772Cys VAR_077975 rs181969865
9 TBCD p.Ala921Thr VAR_077976 rs886041085
10 TBCD p.Pro937Arg VAR_077977 rs886041087
11 TBCD p.Pro1122Leu VAR_077980 rs755177846

Expression for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

Search GEO for disease gene expression data for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum.

Pathways for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

GO Terms for Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and...

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